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of 1 300
pro vyhledávání: '"Doederlein A"'
Publikováno v:
The Art, Science, and Engineering of Programming, 2024, Vol. 8, Issue 3, Article 16
Context: In the first part of his 2012 presentation "Inventing on Principle", Bret Victor gives a demo of a live code editor for Javascript which shows the dynamic history of values of variables in real time. This form of live programming has become
Externí odkaz:
http://arxiv.org/abs/2403.02161
Autor:
Bibiana Mello de Oliveira, Filipe Andrade Bernardi, João Francisco Baiochi, Mariane Barros Neiva, Milena Artifon, Alberto Andrade Vergara, Ana Maria Martins, Anete Sevciovic Grumach, Angelina Xavier Acosta, Antonette Souto El Husny, Bethania de Freitas Rodrigues Ribeiro, Camila Ferreira Ramos, Carlos Eduardo Steiner, Chong Ae Kim, Denise Maria Christofolini, Diego Bettiol Yamada, Ellaine Doris Fernandes Carvalho, Erlane Marques Ribeiro, Fabíola de Arruda Bastos, Faradiba Sarquis Serpa, Flávia Reseda Brandão, Giselle Maria Araujo Felix Adjuto, Isabelle Carvalho, Jonas Alex Morales Saute, Juan Clinton Llerena Junior, Larissa Souza Mario Bueno, Luiz Carlos Santana da Silva, Mara Lucia Schmitz Ferreira Santos, Marcela Câmara Machado Costa, Marcia Maria Costa Giacon Giusti, Marcial Francis Galera, Márcio Eloi Colombo Filho, Maria Denise Fernandes Carvalho de Andrade, Maria Teresinha De Oliveira Cardoso, Marilaine Matos de Menezes Ferreira, Michelle Zeny, Milena Coelho Fernandes Caldato, Ney Boa Sorte, Nina Rosa de Castro Musolino, Paula Frassinetti Vasconcelos de Medeiros, Paulo Ricardo Gazzola Zen, Raquel Tavares Boy Da Silva, Rayana Elias Maia, Rodrigo Fock, Rosemarie Elizabeth Schimidt Almeida, Solange Oliveira Rodrigues Valle, Tatiana Amorim, Thaís Bomfim Teixeira, Vania Mesquita Gadelha Prazeres, Victor Evangelista de Faria Ferraz, Vinicius Costa Lima, Wagner José Martins Paiva, Ida Vanessa Doederlein Schwartz, Domingos Alves, Têmis Maria Félix, Raras Network Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on specific disorders. To address this
Externí odkaz:
https://doaj.org/article/5b03fce23cb148d88e2d9b95dbec7a0d
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-22 (2024)
Abstract Background Phenylketonuria (PKU) is a rare genetic disorder characterized by a deficiency in the metabolism of the essential amino acid phenylalanine, which has a neurotoxic effect at high concentrations. The available treatment for PKU invo
Externí odkaz:
https://doaj.org/article/fd519977b6e64eb6babdf71b29b1b0a1
Autor:
Vaneisse Monteiro, Karina Colonetti, Carlos Henrique Pagno, Helena OS Schmidt, Fernanda Sperb-Ludwig, Bibiana Mello de Oliveira, Soraia Poloni, Alessandro O Rios, Carolina F Moura de Souza, Ida Vanessa Doederlein Schwartz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Background Glycogen storage disease type Ia (GSD-Ia) is one of the most common hepatic GSD. Its treatment mainly consists of a diet including a high intake of slow-digestion carbohydrates such as raw cornstarch and the restriction of simple
Externí odkaz:
https://doaj.org/article/d93295b931fb47888e5200c76f0edeb8
Autor:
Cíntia Costa Medeiros Martins, Nathalie Ribeiro Artigas, Amanda Pasqualotto, Artur Francisco Schumacher Schuh, Ida Vanessa Doederlein Schwartz, Matheus Zschornack Strelow, Carlos Roberto de Mello Rieder
Publikováno v:
Revista Contexto & Saúde, Vol 24, Iss 49 (2024)
Objetivo: avaliar o nível de capacidade funcional e associar com a qualidade de vida (QV) de pacientes com parkinsonismo atípico (PA). Métodos: Trata-se de um estudo transversal com uma avaliação clínica por médico e fisioterapeuta para confir
Externí odkaz:
https://doaj.org/article/570b66fc83994c04b53a06e32b43bcdb
Language models are promising solutions for tackling increasing complex problems. In software engineering, they recently attracted attention in code assistants, with programs automatically written in a given programming language from a programming ta
Externí odkaz:
http://arxiv.org/abs/2210.14699
Autor:
Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, José Elías García-Ortiz
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/6fb2e451663f498097b6426ea1b01233
Autor:
Tresbach, Rafael Hencke, Sperb-Ludwig, Fernanda, Ligabue-Braun, Rodrigo, Bitencourt, Fernanda Hendges de, Tonon, Tássia, Souza, Carolina Fischinger Moura de, Poswar, Fabiano de Oliveira, Leite, Maria Efigênia de Queiroz, Amorim, Tatiana, Porta, Gilda, Seda Neto, João, Miura, Irene Kazumi, Steiner, Carlos Eduardo, Martins, Ana Maria, Pessoa, André Luiz Santos, Ribeiro, Erlane Marques, Schwartz, Ida Vanessa Doederlein
Publikováno v:
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Autor:
Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J. Blom, François Maillot, Ida Vanessa Doederlein Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2024)
Abstract Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients
Externí odkaz:
https://doaj.org/article/78b8aa0bac9f4db58469ead2acc98901
Autor:
Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto e Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
Abstract Massive sequencing platforms allow the identification of complex clinical phenotypes involving more than one autosomal recessive disorder. In this study, we report on an adult patient, born to a related couple (third degree cousins), referre
Externí odkaz:
https://doaj.org/article/c8126f3045e9484785b14d1f1aa59e81